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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Bone Marrow Failure Disorders
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Accession:DOID:9007222 term browser browse the term
Synonyms:exact_synonym: bone marrow failure;   bone marrow failure disorder;   bone marrow failure syndrome;   bone marrow failure syndromes
 primary_id: MESH:D000080983
 xref: OMIM:PS614675
For additional species annotation, visit the Alliance of Genome Resources.



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Bone Marrow Failure Disorders term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TTR transthyretin ISO ClinVar Annotator: match by term: Bone marrow failure ClinVar PMID:1351039 PMID:1358785 PMID:1997217 PMID:2002274 PMID:2063870 More... NCBI chr 7:57,940,354...57,947,084
Ensembl chr 7:57,914,381...57,947,058
JBrowse link
aplastic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANAPC2 anaphase promoting complex subunit 2 ISO protein:decreased expression:bone marrow (human) RGD PMID:28968996 RGD:14696669 NCBI chr 9:48,475,777...48,486,715
Ensembl chr 9:48,471,584...48,609,303
JBrowse link
G B9D2 B9 domain containing 2 severity
susceptibility
ISO protein:decreased expression: :
DNA:polymorphism: :509C>T(human)
RGD PMID:24028718 PMID:24362456 RGD:11073601 RGD:11073606 NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885
JBrowse link
G CD40LG CD40 ligand ISO protein:decreased expression:serum (human) RGD PMID:22537155 RGD:11352267 NCBI chr  X:107,001,421...107,023,007
Ensembl chr  X:107,010,890...107,023,006
JBrowse link
G CD86 CD86 molecule ISO protein:increased expression:blood, dendritic cell (human) RGD PMID:21234821 RGD:11354968 NCBI chr33:25,256,267...25,318,855
Ensembl chr33:25,256,267...25,318,087
JBrowse link
G CSF2 colony stimulating factor 2 ISO CTD Direct Evidence: therapeutic CTD PMID:9885444 PMID:12221670 NCBI chr11:20,342,880...20,346,959
Ensembl chr11:20,344,648...20,346,959
JBrowse link
G CSF3 colony stimulating factor 3 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:1642096 PMID:9777751 PMID:10544668 PMID:10629575 PMID:15863969 More... NCBI chr 9:22,529,643...22,532,326
Ensembl chr 9:22,530,698...22,533,108
JBrowse link
G DDX41 DEAD-box helicase 41 ISO ClinVar Annotator: match by term: Aplastic anemia ClinVar NCBI chr 4:35,854,382...35,859,853
Ensembl chr 4:35,854,597...35,859,852
JBrowse link
G DIPK1A divergent protein kinase domain 1A ISO ClinVar Annotator: match by term: Aplastic anemia ClinVar PMID:25741868 NCBI chr 6:56,134,770...56,206,943
Ensembl chr 6:56,174,719...56,205,741
JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 ISO DNA:missense mutations:exon:p.V105G, p.S121A (human) RGD PMID:26360549 RGD:11251733 NCBI chr  X:122,838,787...122,850,870
Ensembl chr  X:122,838,645...122,850,884
JBrowse link
G EPHX1 epoxide hydrolase 1 disease_progression
susceptibility
ISO DNA:SNPs:exon:p.Y113H (rs1051740), p.H139R (rs2234922) (human)
DNA:missense mutation:exon:p.H139R (human)
RGD PMID:21228718 PMID:26999617 RGD:11252118 RGD:11252120 NCBI chr 7:38,964,319...39,004,902
Ensembl chr 7:38,964,338...38,999,238
JBrowse link
G FAS Fas cell surface death receptor ISO protein:increased expression:CD34+ bone marrow cell
protein:decreased expression:plasma:
RGD PMID:7577642 PMID:11876982 RGD:11049159 RGD:11049449 NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321
JBrowse link
G FLT3LG fms related receptor tyrosine kinase 3 ligand ISO protein:increased expression:serum,plasma: RGD PMID:7492765 RGD:11049505 NCBI chr 1:107,015,222...107,025,181
Ensembl chr 1:107,015,223...107,024,708
JBrowse link
G GATA2 GATA binding protein 2 ISO mRNA:decreased expression:CD34+ cell RGD PMID:11328281 RGD:11049519 NCBI chr20:2,472,251...2,488,380
Ensembl chr20:2,473,912...2,480,991
JBrowse link
G GFI1B growth factor independent 1B transcriptional repressor ISO mRNA:decreased expression:bone marrow cell: RGD PMID:17156408 RGD:11040507 NCBI chr 9:51,380,697...51,394,679
Ensembl chr 9:51,380,696...51,392,812
JBrowse link
G IFNG interferon gamma susceptibility
treatment
ISO DNA:polymorphism: : 874A>T(human)
DNA:repeats,haplotype:intron: -2,353 A>T(human)
DNA:repeats:intron:
OMIM
RGD
PMID:15327519 PMID:18426658 PMID:20953611 RGD:10755688 RGD:10755690 RGD:10755710 NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698
JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase severity ISO RGD PMID:7694680 RGD:12910751 NCBI chr13:47,108,442...47,190,935
Ensembl chr13:47,108,504...47,190,029
JBrowse link
G NBN nibrin ISO OMIM NCBI chr29:35,416,093...35,477,569
Ensembl chr29:35,416,093...35,477,563
JBrowse link
G PRF1 perforin 1 ISO OMIM NCBI chr 4:21,497,865...21,502,429
Ensembl chr 4:21,498,249...21,500,864
JBrowse link
G RPL5 ribosomal protein L5 ISO ClinVar Annotator: match by term: Aplastic anemia ClinVar PMID:25741868 NCBI chr 6:56,207,171...56,216,030
Ensembl chr 6:56,207,173...56,215,956
JBrowse link
G SBDS SBDS ribosome maturation factor ISO OMIM NCBI chr 6:1,256,087...1,263,482
Ensembl chr 6:1,256,546...1,263,467
JBrowse link
G TERT telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Aplastic anemia
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:12167716 PMID:15814878 PMID:15885610 PMID:16627250 PMID:17460043 More... RGD:11038668 NCBI chr34:11,288,622...11,307,790
Ensembl chr34:11,288,622...11,307,951
JBrowse link
G THPO thrombopoietin no_association ISO DNA:SNPs:exons:
DNA:mutation:cds:c.112C>T(human)
RGD PMID:22686250 PMID:24085763 RGD:11073679 RGD:11073680 NCBI chr34:17,245,006...17,255,250
Ensembl chr34:17,247,731...17,253,033
JBrowse link
G TINF2 TERF1 interacting nuclear factor 2 ISO ClinVar Annotator: match by term: Aplastic anemia ClinVar NCBI chr 8:4,221,183...4,223,863
Ensembl chr 8:4,221,269...4,223,512
JBrowse link
G TNF tumor necrosis factor ISO DNA:SNP:promoter:-308G>A (human) RGD PMID:12941546 RGD:10449452 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
JBrowse link
autosomal dominant sideroblastic anemia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HSPA9 heat shock protein family A (Hsp70) member 9 ISO OMIM NCBI chr11:26,122,917...26,142,458
Ensembl chr11:26,121,499...26,142,434
JBrowse link
autosomal recessive pyridoxine-refractory sideroblastic anemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLRX5 glutaredoxin 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:64,383,203...64,392,886
Ensembl chr 8:64,383,227...64,383,841
JBrowse link
G SLC25A38 solute carrier family 25 member 38 ISO OMIM NCBI chr23:9,031,984...9,045,781
Ensembl chr23:9,032,000...9,045,788
JBrowse link
autosomal recessive pyridoxine-refractory sideroblastic anemia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLRX5 glutaredoxin 5 ISO OMIM NCBI chr 8:64,383,203...64,392,886
Ensembl chr 8:64,383,227...64,383,841
JBrowse link
Autosomal Sideroblastic Anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARSA arylsulfatase A ISO ClinVar Annotator: match by term: Autosomal recessive sideroblastic anemia ClinVar PMID:25741868 NCBI chr10:16,691,927...16,694,346
Ensembl chr10:16,691,758...16,695,398
JBrowse link
Bone Marrow Failure Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SRP72 signal recognition particle 72 ISO OMIM NCBI chr13:48,688,295...48,717,826
Ensembl chr13:48,688,295...48,717,824
JBrowse link
Bone Marrow Failure Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERCC6L2 ERCC excision repair 6 like 2 ISO OMIM NCBI chr 1:70,793,975...70,918,151
Ensembl chr 1:70,835,410...70,917,962
JBrowse link
Bone Marrow Failure Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNAJC21 DnaJ heat shock protein family (Hsp40) member C21 ISO OMIM NCBI chr 4:73,343,618...73,372,003
Ensembl chr 4:73,348,638...73,372,009
JBrowse link
Bone Marrow Failure Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYSM1 Myb like, SWIRM and MPN domains 1 ISO OMIM NCBI chr 5:51,037,222...51,079,229
Ensembl chr 5:51,036,874...51,075,259
JBrowse link
Bone Marrow Failure Syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TP53 tumor protein p53 ISO OMIM NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109
JBrowse link
Bone Marrow Failure Syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MDM4 MDM4 regulator of p53 ISO OMIM NCBI chr38:1,055,978...1,122,348
Ensembl chr38:1,056,109...1,107,166
JBrowse link
Congenital Bone Marrow Failure Syndromes term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNAJC21 DnaJ heat shock protein family (Hsp40) member C21 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Inherited bone marrow failure syndrome
CTD
ClinVar
PMID:25741868 PMID:27346687 NCBI chr 4:73,343,618...73,372,003
Ensembl chr 4:73,348,638...73,372,009
JBrowse link
G ERCC6L2 ERCC excision repair 6 like 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:70,793,975...70,918,151
Ensembl chr 1:70,835,410...70,917,962
JBrowse link
G SRP72 signal recognition particle 72 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr13:48,688,295...48,717,826
Ensembl chr13:48,688,295...48,717,824
JBrowse link
congenital hypoplastic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr17:21,198,839...21,221,897
Ensembl chr17:21,197,826...21,221,635
JBrowse link
G GATA1 GATA binding protein 1 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:16783379 PMID:20301538 PMID:20729467 PMID:22706301 PMID:23704091 More... NCBI chr  X:41,991,321...41,998,319
Ensembl chr  X:41,971,582...41,998,303
JBrowse link
G UMPS uridine monophosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr33:27,754,592...27,782,517
Ensembl chr33:27,754,643...27,782,514
JBrowse link
Diamond Blackfan anemia 15 with mandibulofacial dysostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPS26 ribosomal protein S26 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis ClinVar PMID:17483715 PMID:19816270 PMID:20116044 PMID:23718193 PMID:24942156 More... NCBI chr10:362,699...364,406
Ensembl chr10:362,694...364,420
JBrowse link
G RPS28 ribosomal protein S28 ISO OMIM NCBI chr20:52,901,953...52,903,244
Ensembl chr20:52,902,031...52,903,244
JBrowse link
G TSR2 TSR2 ribosome maturation factor ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis ClinVar PMID:11424144 PMID:24942156 NCBI chr  X:46,189,810...46,194,949
Ensembl chr  X:46,189,870...46,296,966
JBrowse link
Diamond-Blackfan anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALOX12B arachidonate 12-lipoxygenase, 12R type ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr 5:32,899,416...32,911,442
Ensembl chr 5:32,896,238...32,911,552
JBrowse link
G ALOX15B arachidonate 15-lipoxygenase type B ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr 5:32,878,348...32,888,253
Ensembl chr 5:32,878,338...32,888,316
JBrowse link
G ALOXE3 arachidonate lipoxygenase 3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr 5:32,917,681...32,941,470
Ensembl chr 5:32,918,065...32,941,752
JBrowse link
G ARHGEF15 Rho guanine nucleotide exchange factor 15 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr 5:33,096,108...33,110,551
Ensembl chr 5:33,098,159...33,121,083
JBrowse link
G AURKB aurora kinase B ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr 5:33,014,098...33,028,951
Ensembl chr 5:33,014,102...33,033,948
JBrowse link
G BORCS6 BLOC-1 related complex subunit 6 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr 5:33,002,458...33,004,555
Ensembl chr 5:33,003,149...33,004,204
JBrowse link
G CHD3 chromodomain helicase DNA binding protein 3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr 5:32,747,341...32,768,114
Ensembl chr 5:32,747,397...32,766,965
JBrowse link
G CNTROB centrobin, centriole duplication and spindle assembly protein ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr 5:32,777,242...32,811,747
Ensembl chr 5:32,777,341...32,811,518
JBrowse link
G CTC1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr 5:33,033,474...33,055,004
Ensembl chr 5:33,033,596...33,055,142
JBrowse link
G CYB5D1 cytochrome b5 domain containing 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr 5:32,714,130...32,721,719 JBrowse link
G DIPK1A divergent protein kinase domain 1A ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:16199547 PMID:19061985 PMID:19773262 PMID:20960466 PMID:22689679 More... NCBI chr 6:56,134,770...56,206,943
Ensembl chr 6:56,174,719...56,205,741
JBrowse link
G DNAH2 dynein axonemal heavy chain 2 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr 5:32,600,902...32,688,560
Ensembl chr 5:32,602,553...32,688,559
JBrowse link
G EFNB3 ephrin B3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr 5:32,588,062...32,592,390
Ensembl chr 5:32,574,134...32,594,333
JBrowse link
G GATA1 GATA binding protein 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:871527 PMID:12200364 PMID:14691578 PMID:16199547 PMID:16783379 More... NCBI chr  X:41,991,321...41,998,319
Ensembl chr  X:41,971,582...41,998,303
JBrowse link
G GLOD5 glyoxalase domain containing 5 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr  X:41,967,674...41,979,241
Ensembl chr  X:41,967,812...41,979,243
JBrowse link
G GUCY2D guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr 5:32,844,033...32,859,263
Ensembl chr 5:32,844,033...32,857,687
JBrowse link
G HES7 hes family bHLH transcription factor 7 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr 5:32,944,351...32,950,433
Ensembl chr 5:32,944,037...32,947,591
JBrowse link
G KCNAB3 potassium voltage-gated channel subfamily A regulatory beta subunit 3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr 5:32,777,435...32,783,619
Ensembl chr 5:32,777,791...32,783,611
JBrowse link
G KDM6B lysine demethylase 6B ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr 5:32,689,000...32,711,026
Ensembl chr 5:32,696,211...32,710,666
JBrowse link
G KLF1 Kruppel like factor 1 ISO mRNA:decreased expression:bone marrow, blood RGD PMID:22965552 RGD:10769343 NCBI chr20:49,295,097...49,298,668
Ensembl chr20:49,295,195...49,298,602
JBrowse link
G KRBA2 KRAB-A domain containing 2 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr 5:33,144,223...33,151,175
Ensembl chr 5:33,147,045...33,150,779
JBrowse link
G NAA38 N-alpha-acetyltransferase 38, NatC auxiliary subunit ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr 5:32,712,799...32,714,493
Ensembl chr 5:32,712,805...32,713,600
JBrowse link
G ODF4 outer dense fiber of sperm tails 4 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr 5:33,118,401...33,121,979
Ensembl chr 5:33,120,604...33,121,945
JBrowse link
G PER1 period circadian regulator 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr 5:32,957,517...32,972,368
Ensembl chr 5:32,957,127...32,968,465
JBrowse link
G PFAS phosphoribosylformylglycinamidine synthase ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr 5:33,055,144...33,076,823
Ensembl chr 5:33,060,929...33,076,287
JBrowse link
G POLR3A RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22855961 PMID:25741868 PMID:27029625 NCBI chr 4:27,834,197...27,883,065
Ensembl chr 4:27,835,612...27,883,436
JBrowse link
G RANGRF RAN guanine nucleotide release factor ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr 5:33,084,355...33,085,810
Ensembl chr 5:33,084,397...33,085,812
JBrowse link
G RNF227 ring finger protein 227 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532
G RPL11 ribosomal protein L11 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:16199547 PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 2:75,781,210...75,785,614
Ensembl chr 2:75,781,091...75,785,605
JBrowse link
G RPL26 ribosomal protein L26 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr 5:33,152,114...33,158,237
Ensembl chr 5:33,152,113...33,158,302
JBrowse link
G RPL5 ribosomal protein L5 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:16199547 PMID:19061985 PMID:19773262 PMID:20378560 PMID:20960466 More... NCBI chr 6:56,207,171...56,216,030
Ensembl chr 6:56,207,173...56,215,956
JBrowse link
G RPS10 ribosomal protein S10 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:20116044 PMID:20159986 More... NCBI chr12:3,713,984...3,720,149
Ensembl chr12:3,713,980...3,719,780
JBrowse link
G RPS17 ribosomal protein S17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17647292 NCBI chr 3:54,400,519...54,403,203
Ensembl chr 3:54,312,195...54,406,452
JBrowse link
G RPS19 ribosomal protein S19 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:9988267 PMID:10590074 PMID:10598818 PMID:10753603 PMID:11112378 More... RGD:1599571 RGD:1599572 NCBI chr 1:112,418,800...112,427,445
Ensembl chr 1:112,411,281...112,427,381
JBrowse link
G RPS20 ribosomal protein S20 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:25741868 PMID:32790018 NCBI chr29:7,488,481...7,489,850 JBrowse link
G RPS24 ribosomal protein S24 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:17186470 PMID:19689926 PMID:22855961 PMID:25741868 PMID:27029625 More... NCBI chr 4:27,886,872...27,893,145
Ensembl chr 4:27,877,075...27,908,806
JBrowse link
G RPS7 ribosomal protein S7 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr17:2,139,011...2,143,160
Ensembl chr17:2,138,779...2,143,178
JBrowse link
G SLC25A35 solute carrier family 25 member 35 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr 5:33,085,781...33,089,379
Ensembl chr 5:33,085,537...33,089,021
JBrowse link
G SUV39H1 SUV39H1 histone lysine methyltransferase ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr  X:41,894,623...41,907,854
Ensembl chr  X:41,893,045...41,906,403
JBrowse link
G TMEM107 transmembrane protein 107 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr 5:32,991,000...32,993,319
Ensembl chr 5:32,991,021...32,993,248
JBrowse link
G TMEM88 transmembrane protein 88 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr 5:32,711,289...32,712,281
Ensembl chr 5:32,711,305...32,712,108
JBrowse link
G TP53 tumor protein p53 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 PMID:30146126 NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109
JBrowse link
G TRAPPC1 trafficking protein particle complex subunit 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr 5:32,784,577...32,786,060
Ensembl chr 5:32,784,846...32,786,163
JBrowse link
G VAMP2 vesicle associated membrane protein 2 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr 5:32,975,372...32,977,967 JBrowse link
G WAS WASP actin nucleation promoting factor ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr  X:41,882,240...41,890,053
Ensembl chr  X:41,882,875...41,890,058
JBrowse link
G WRAP53 WD repeat containing antisense to TP53 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr 5:32,574,153...32,586,222
Ensembl chr 5:32,574,134...32,594,333
JBrowse link
G ZNF699 zinc finger protein 699 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:25741868 NCBI chr20:51,361,483...51,376,795
Ensembl chr20:51,365,371...51,372,232
JBrowse link
Diamond-Blackfan anemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DIPK1A divergent protein kinase domain 1A ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 ClinVar PMID:19061985 PMID:19773262 PMID:20960466 PMID:23718193 PMID:25741868 More... NCBI chr 6:56,134,770...56,206,943
Ensembl chr 6:56,174,719...56,205,741
JBrowse link
G RPL5 ribosomal protein L5 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 ClinVar PMID:19061985 PMID:19773262 PMID:20960466 PMID:23718193 PMID:25741868 More... NCBI chr 6:56,207,171...56,216,030
Ensembl chr 6:56,207,173...56,215,956
JBrowse link
G RPS19 ribosomal protein S19 ISO OMIM NCBI chr 1:112,418,800...112,427,445
Ensembl chr 1:112,411,281...112,427,381
JBrowse link
Diamond-Blackfan anemia 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IKZF4 IKAROS family zinc finger 4 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 10 ClinVar PMID:23812780 NCBI chr10:332,614...360,470
Ensembl chr10:342,097...357,364
JBrowse link
G RPS26 ribosomal protein S26 ISO OMIM NCBI chr10:362,699...364,406
Ensembl chr10:362,694...364,420
JBrowse link
Diamond-Blackfan anemia 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPL26 ribosomal protein L26 ISO OMIM NCBI chr 5:33,152,114...33,158,237
Ensembl chr 5:33,152,113...33,158,302
JBrowse link
Diamond-Blackfan anemia 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NKIRAS1 NFKB inhibitor interacting Ras like 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 12 ClinVar PMID:23812780 PMID:25741868 PMID:28492532 NCBI chr23:19,829,764...19,861,462
Ensembl chr23:19,830,124...19,861,424
JBrowse link
G RPL15 ribosomal protein L15 ISO OMIM NCBI chr23:19,825,622...19,829,807
Ensembl chr23:19,825,622...19,829,807
JBrowse link
Diamond-Blackfan anemia 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPS29 ribosomal protein S29 ISO OMIM NCBI chr 8:26,221,546...26,223,580 JBrowse link
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TSR2 TSR2 ribosome maturation factor ISO OMIM NCBI chr  X:46,189,810...46,194,949
Ensembl chr  X:46,189,870...46,296,966
JBrowse link
Diamond-Blackfan anemia 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPL27 ribosomal protein L27 ISO OMIM NCBI chr 9:20,063,524...20,066,915
Ensembl chr 9:20,063,525...20,066,892
JBrowse link
Diamond-Blackfan anemia 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPS27 ribosomal protein S27 ISO OMIM NCBI chr 7:43,149,465...43,150,658
Ensembl chr 7:43,067,161...43,309,293
JBrowse link
Diamond-Blackfan anemia 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPL18 ribosomal protein L18 ISO OMIM NCBI chr 1:107,690,021...107,694,586
Ensembl chr 1:107,688,074...107,694,596
JBrowse link
Diamond-Blackfan anemia 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPL35 ribosomal protein L35 ISO OMIM NCBI chr 9:58,153,433...58,158,597
Ensembl chr 9:58,153,260...58,162,327
JBrowse link
Diamond-Blackfan anemia 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPS15A ribosomal protein S15a ISO OMIM NCBI chr 6:26,322,478...26,329,529
Ensembl chr 6:26,322,569...26,329,668
JBrowse link
Diamond-Blackfan anemia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POLR3A RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 3 ClinVar PMID:25741868 NCBI chr 4:27,834,197...27,883,065
Ensembl chr 4:27,835,612...27,883,436
JBrowse link
G RPS24 ribosomal protein S24 ISO OMIM NCBI chr 4:27,886,872...27,893,145
Ensembl chr 4:27,877,075...27,908,806
JBrowse link
Diamond-Blackfan anemia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPS17 ribosomal protein S17 ISO OMIM NCBI chr 3:54,400,519...54,403,203
Ensembl chr 3:54,312,195...54,406,452
JBrowse link
Diamond-Blackfan anemia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IQCG IQ motif containing G ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 5 ClinVar PMID:16199547 PMID:18535205 PMID:22262766 PMID:22689679 PMID:25424902 More... NCBI chr33:28,745,089...28,791,744
Ensembl chr33:28,745,316...28,800,119
JBrowse link
G RPL35A ribosomal protein L35a ISO OMIM NCBI chr33:28,741,796...28,745,043
Ensembl chr33:28,741,819...28,744,672
JBrowse link
Diamond-Blackfan anemia 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DIPK1A divergent protein kinase domain 1A ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 6 ClinVar PMID:19061985 PMID:19773262 PMID:23718193 PMID:25741868 PMID:28166811 More... NCBI chr 6:56,134,770...56,206,943
Ensembl chr 6:56,174,719...56,205,741
JBrowse link
G RPL5 ribosomal protein L5 ISO OMIM NCBI chr 6:56,207,171...56,216,030
Ensembl chr 6:56,207,173...56,215,956
JBrowse link
Diamond-Blackfan anemia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPL11 ribosomal protein L11 ISO OMIM NCBI chr 2:75,781,210...75,785,614
Ensembl chr 2:75,781,091...75,785,605
JBrowse link
Diamond-Blackfan anemia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPS7 ribosomal protein S7 ISO OMIM NCBI chr17:2,139,011...2,143,160
Ensembl chr17:2,138,779...2,143,178
JBrowse link
Diamond-Blackfan anemia 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPS10 ribosomal protein S10 ISO OMIM NCBI chr12:3,713,984...3,720,149
Ensembl chr12:3,713,980...3,719,780
JBrowse link
Diamond-Blackfan Anemia-Like term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EPO erythropoietin ISO OMIM NCBI chr 6:8,994,211...8,995,954
Ensembl chr 6:8,994,211...8,996,144
JBrowse link
G IKZF1 IKAROS family zinc finger 1 ISO ClinVar Annotator: match by term: DIAMOND-BLACKFAN ANEMIA-LIKE ClinVar NCBI chr18:1,661,851...1,750,987
Ensembl chr18:1,661,690...1,770,768
JBrowse link
Fanconi anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRCA2 BRCA2 DNA repair associated susceptibility ISO DNA:mutation
ClinVar Annotator: match by term: Fanconi anemia
RGD
ClinVar
PMID:11030417 PMID:11185744 PMID:12065746 PMID:12491487 PMID:12955716 More... RGD:734658 NCBI chr25:7,734,450...7,797,851
Ensembl chr25:7,734,453...7,797,815
JBrowse link
G BRIP1 BRCA1 interacting helicase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fanconi pancytopenia
ClinVar Annotator: match by term: Fanconi's anemia
CTD
ClinVar
PMID:16116421 PMID:16116423 PMID:16116424 PMID:16153896 PMID:17033622 More... NCBI chr 9:34,804,285...34,984,640
Ensembl chr 9:34,806,535...34,983,788
JBrowse link
G BRK1 BRICK1 subunit of SCAR/WAVE actin nucleating complex ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr20:8,220,109...8,231,337
Ensembl chr20:8,221,575...8,231,258
JBrowse link
G C1H9orf3 aminopeptidase O (putative) ISO ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi's anemia
ClinVar PMID:1574115 PMID:1641028 PMID:08103176 PMID:8128956 PMID:8499901 More... NCBI chr 1:71,770,687...72,009,374
Ensembl chr 1:71,677,068...72,009,395
JBrowse link
G FANCA FA complementation group A disease_progression ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia, complementation group A
DNA:deletions, transitions:exon, intron:multiple
DNA:missense mutations, splice-site mutations:exon, intron:multiple
CTD
ClinVar
RGD
PMID:1792455 PMID:2472832 PMID:8896563 PMID:09371798 PMID:9399890 More... RGD:11344899 RGD:11344914 RGD:11344919 NCBI chr 5:63,778,149...63,838,869
Ensembl chr 5:63,778,212...63,838,823
JBrowse link
G FANCB FA complementation group B ISO ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi's anemia
ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr  X:10,690,826...11,140,838
Ensembl chr  X:11,095,200...11,141,029
JBrowse link
G FANCC FA complementation group C onset ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi pancytopenia
DNA:deletion: :322delG (human)
DNA:insertion, missense, substitution mutations:cds:c.455_456dupA,c.996G>A, c.1390C>T(p.Q464X)(human)
CTD
ClinVar
RGD
PMID:1574115 PMID:1641028 PMID:7492758 PMID:7689011 PMID:8081385 More... RGD:11041907 RGD:11344914 NCBI chr 1:71,388,931...71,678,019
Ensembl chr 1:71,487,601...71,678,506
JBrowse link
G FANCD2 FA complementation group D2 ISO DNA:missense mutations, nonsense mutation, splice-site mutation: :multiple
ClinVar Annotator: match by term: Fanconi anemia
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:9536098 PMID:11239453 PMID:14667412 PMID:16199547 PMID:16280053 More... RGD:11344904 RGD:1601137 NCBI chr20:8,240,270...8,297,269
Ensembl chr20:8,240,311...8,297,568
JBrowse link
G FANCD2OS FANCD2 opposite strand ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:9536098 PMID:16199547 PMID:16280053 PMID:17436244 PMID:17576681 More... NCBI chr20:8,236,303...8,239,662
Ensembl chr20:8,236,445...8,239,193
JBrowse link
G FANCE FA complementation group E ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:25741868 NCBI chr12:4,587,053...4,600,946
Ensembl chr12:4,587,041...4,600,405
JBrowse link
G FANCF FA complementation group F ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:9382107 PMID:10615118 PMID:15262960 PMID:16084127 PMID:16774934 More... NCBI chr21:44,253,308...44,256,221
Ensembl chr21:44,255,134...44,256,618
JBrowse link
G FANCG FA complementation group G ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi's anemia
FANCG, OMIM:602956
CTD
ClinVar
RGD
PMID:9536098 PMID:9806458 PMID:09806548 PMID:10807541 PMID:10961856 More... RGD:1599879 NCBI chr11:51,652,939...51,659,766
Ensembl chr11:51,652,944...51,659,751
JBrowse link
G FANCI FA complementation group I ISO DNA:mutations: :multiple
ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi pancytopenia
ClinVar Annotator: match by term: Fanconi's anemia
RGD
ClinVar
PMID:9536098 PMID:15477547 PMID:16177225 PMID:16199547 PMID:17088268 More... RGD:11344925 NCBI chr 3:52,282,955...52,357,874
Ensembl chr 3:52,282,731...52,357,226
JBrowse link
G FANCL FA complementation group L ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi's anemia
CTD
ClinVar
PMID:9536098 PMID:12973351 PMID:16199547 PMID:17576681 PMID:19405097 More... NCBI chr10:58,521,480...58,637,352
Ensembl chr10:58,521,552...58,637,482
JBrowse link
G FANCM FA complementation group M ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi pancytopenia
ClinVar Annotator: match by term: Fanconi's anemia
CTD
ClinVar
PMID:2867840 PMID:9536098 PMID:16116422 PMID:16199547 PMID:17289582 More... NCBI chr 8:22,561,862...22,625,077
Ensembl chr 8:22,562,147...22,623,994
JBrowse link
G FLT3LG fms related receptor tyrosine kinase 3 ligand ISO protein:increased expression:serum,plasma: RGD PMID:7492765 RGD:11049505 NCBI chr 1:107,015,222...107,025,181
Ensembl chr 1:107,015,223...107,024,708
JBrowse link
G IFNG interferon gamma ISO protein:increased expression:plasma RGD PMID:24021704 RGD:11049161 NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698
JBrowse link
G IL10 interleukin 10 ISO protein:increased expression:plasma RGD PMID:24021704 RGD:11049161 NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057
JBrowse link
G MC1R melanocortin 1 receptor ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:9721219 PMID:28492532 PMID:29098742 NCBI chr 5:63,694,296...63,695,249 JBrowse link
G MX1 MX dynamin like GTPase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9389754 NCBI chr31:35,898,206...35,929,802
Ensembl chr31:35,860,590...35,951,350
JBrowse link
G PALB2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:17200668 PMID:18302019 PMID:25741868 PMID:26467025 PMID:26564480 More... NCBI chr 6:22,209,711...22,237,798
Ensembl chr 6:22,209,384...22,237,745
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi pancytopenia
ClinVar Annotator: match by term: Fanconi's anemia
ClinVar PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 More... NCBI chr 3:52,357,062...52,373,768
Ensembl chr 3:52,357,068...52,421,544
JBrowse link
G PRF1 perforin 1 ISO RGD PMID:21542827 RGD:6482802 NCBI chr 4:21,497,865...21,502,429
Ensembl chr 4:21,498,249...21,500,864
JBrowse link
G PTCH1 patched 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:17703323 PMID:19557015 PMID:22382802 PMID:28492532 NCBI chr 1:71,246,750...71,309,036
Ensembl chr 1:71,238,195...71,305,662
JBrowse link
G RAD51C RAD51 paralog C ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fanconi anemia
CTD
ClinVar
PMID:20400963 PMID:20400964 PMID:20697805 PMID:20723205 PMID:21537932 More... NCBI chr 9:33,289,675...33,347,411
Ensembl chr 9:33,289,742...33,326,405
JBrowse link
G SLX4 SLX4 structure-specific endonuclease subunit ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi's anemia
CTD
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19596235 PMID:19596236 More... NCBI chr 6:37,648,297...37,666,584
Ensembl chr 6:37,647,976...37,703,190
JBrowse link
G SPIRE2 spire type actin nucleation factor 2 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:9721219 PMID:25741868 PMID:28492532 PMID:29098742 NCBI chr 5:63,732,855...63,765,162
Ensembl chr 5:63,732,842...63,753,419
JBrowse link
G TCF25 transcription factor 25 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:9721219 PMID:28492532 PMID:29098742 NCBI chr 5:63,697,627...63,729,780
Ensembl chr 5:63,681,752...63,729,684
JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:plasma
CTD
RGD
PMID:8438880 PMID:22628295 PMID:24021704 RGD:10450524 RGD:11049161 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
JBrowse link
G VCP valosin containing protein ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:11438206 PMID:16643430 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr11:51,636,986...51,651,749
Ensembl chr11:51,637,411...51,651,714
JBrowse link
G VHL von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr20:8,206,616...8,211,347
Ensembl chr20:8,206,616...8,211,323
JBrowse link
G VRK2 VRK serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi's anemia
ClinVar PMID:9536098 PMID:17576681 PMID:19405097 PMID:21279724 PMID:23613520 More... NCBI chr10:58,432,144...58,544,189
Ensembl chr10:58,431,978...58,544,189
JBrowse link
G ZNF276 zinc finger protein 276 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:9371798 PMID:9536098 PMID:9721219 PMID:10090479 PMID:10094191 More... NCBI chr 5:63,838,818...63,857,742
Ensembl chr 5:63,838,987...63,857,924
JBrowse link
Fanconi anemia complementation group A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRCA1 BRCA1 DNA repair associated ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar PMID:11157798 PMID:11802209 PMID:12496476 PMID:15235020 PMID:17308087 More... NCBI chr 9:19,958,941...20,025,494
Ensembl chr 9:19,958,391...20,025,494
JBrowse link
G C1H9orf3 aminopeptidase O (putative) ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar PMID:08844212 PMID:12670332 PMID:15695377 PMID:24728327 PMID:25741868 More... NCBI chr 1:71,770,687...72,009,374
Ensembl chr 1:71,677,068...72,009,395
JBrowse link
G FANCA FA complementation group A ISO OMIM NCBI chr 5:63,778,149...63,838,869
Ensembl chr 5:63,778,212...63,838,823
JBrowse link
G FANCB FA complementation group B ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:10,690,826...11,140,838
Ensembl chr  X:11,095,200...11,141,029
JBrowse link
G FANCC FA complementation group C ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar PMID:08128956 PMID:08348157 PMID:8799375 PMID:08844212 PMID:8882868 More... NCBI chr 1:71,388,931...71,678,019
Ensembl chr 1:71,487,601...71,678,506
JBrowse link
G FANCD2 FA complementation group D2 ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar PMID:24728327 PMID:25168418 PMID:25741868 PMID:28492532 NCBI chr20:8,240,270...8,297,269
Ensembl chr20:8,240,311...8,297,568
JBrowse link
G FANCD2OS FANCD2 opposite strand ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar PMID:25741868 NCBI chr20:8,236,303...8,239,662
Ensembl chr20:8,236,445...8,239,193
JBrowse link
G FANCG FA complementation group G ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar PMID:28492532 NCBI chr11:51,652,939...51,659,766
Ensembl chr11:51,652,944...51,659,751
JBrowse link
G FANCI FA complementation group I ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:52,282,955...52,357,874
Ensembl chr 3:52,282,731...52,357,226
JBrowse link
G FANCL FA complementation group L ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar PMID:9536098 PMID:17576681 PMID:19405097 PMID:21279724 PMID:25741868 More... NCBI chr10:58,521,480...58,637,352
Ensembl chr10:58,521,552...58,637,482
JBrowse link
G FANCM FA complementation group M ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar PMID:17289582 PMID:18174376 PMID:19379763 PMID:23932590 PMID:24003026 More... NCBI chr 8:22,561,862...22,625,077
Ensembl chr 8:22,562,147...22,623,994
JBrowse link
G SLX4 SLX4 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar PMID:22401137 PMID:22911665 PMID:23211700 PMID:23840564 PMID:25741868 More... NCBI chr 6:37,648,297...37,666,584
Ensembl chr 6:37,647,976...37,703,190
JBrowse link
G VRK2 VRK serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar PMID:9536098 PMID:17576681 PMID:19405097 PMID:21279724 PMID:25741868 More... NCBI chr10:58,432,144...58,544,189
Ensembl chr10:58,431,978...58,544,189
JBrowse link
G ZNF276 zinc finger protein 276 ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A
ClinVar Annotator: match by term: Fanconi anemia, group A
ClinVar PMID:9371798 PMID:09399890 PMID:9536098 PMID:09721219 PMID:10090479 More... NCBI chr 5:63,838,818...63,857,742
Ensembl chr 5:63,838,987...63,857,924
JBrowse link
Fanconi anemia complementation group B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FANCB FA complementation group B ISO OMIM NCBI chr  X:10,690,826...11,140,838
Ensembl chr  X:11,095,200...11,141,029
JBrowse link
Fanconi anemia complementation group C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1H9orf3 aminopeptidase O (putative) ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group C
ClinVar Annotator: match by term: Fanconi anemia, group C
ClinVar Annotator: match by term: FACC
ClinVar PMID:1574115 PMID:1641028 PMID:8103176 PMID:8128956 PMID:8499901 More... NCBI chr 1:71,770,687...72,009,374
Ensembl chr 1:71,677,068...72,009,395
JBrowse link
G FANCC FA complementation group C ISO OMIM NCBI chr 1:71,388,931...71,678,019
Ensembl chr 1:71,487,601...71,678,506
JBrowse link
Fanconi anemia complementation group D1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRCA2 BRCA2 DNA repair associated ISO OMIM NCBI chr25:7,734,450...7,797,851
Ensembl chr25:7,734,453...7,797,815
JBrowse link
Fanconi anemia complementation group D2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FANCD2 FA complementation group D2 ISO OMIM NCBI chr20:8,240,270...8,297,269
Ensembl chr20:8,240,311...8,297,568
JBrowse link
G FANCD2OS FANCD2 opposite strand ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group D2 ClinVar PMID:11239453 PMID:16280053 PMID:17436244 PMID:23613520 PMID:24728327 More... NCBI chr20:8,236,303...8,239,662
Ensembl chr20:8,236,445...8,239,193
JBrowse link
Fanconi anemia complementation group E term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FANCE FA complementation group E ISO OMIM NCBI chr12:4,587,053...4,600,946
Ensembl chr12:4,587,041...4,600,405
JBrowse link
Fanconi anemia complementation group F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FANCF FA complementation group F ISO OMIM NCBI chr21:44,253,308...44,256,221
Ensembl chr21:44,255,134...44,256,618
JBrowse link
Fanconi anemia complementation group G term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FANCG FA complementation group G ISO OMIM NCBI chr11:51,652,939...51,659,766
Ensembl chr11:51,652,944...51,659,751
JBrowse link
G VCP valosin containing protein ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group G ClinVar PMID:11438206 PMID:16643430 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr11:51,636,986...51,651,749
Ensembl chr11:51,637,411...51,651,714
JBrowse link
Fanconi anemia complementation group I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FANCI FA complementation group I ISO OMIM NCBI chr 3:52,282,955...52,357,874
Ensembl chr 3:52,282,731...52,357,226
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group I ClinVar PMID:18414213 PMID:22778927 PMID:23524600 PMID:25741868 PMID:26467025 More... NCBI chr 3:52,357,062...52,373,768
Ensembl chr 3:52,357,068...52,421,544
JBrowse link
Fanconi anemia complementation group J term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRIP1 BRCA1 interacting helicase 1 ISO OMIM NCBI chr 9:34,804,285...34,984,640
Ensembl chr 9:34,806,535...34,983,788
JBrowse link
Fanconi anemia complementation group L term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FANCL FA complementation group L ISO OMIM NCBI chr10:58,521,480...58,637,352
Ensembl chr10:58,521,552...58,637,482
JBrowse link
G VRK2 VRK serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group L ClinVar PMID:9536098 PMID:17576681 PMID:19405097 PMID:21279724 PMID:23613520 More... NCBI chr10:58,432,144...58,544,189
Ensembl chr10:58,431,978...58,544,189
JBrowse link
Fanconi Anemia Complementation Group M term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FANCM FA complementation group M ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group M ClinVar PMID:16116422 PMID:19423727 PMID:19737859 PMID:25741868 PMID:28492532 NCBI chr 8:22,561,862...22,625,077
Ensembl chr 8:22,562,147...22,623,994
JBrowse link
Fanconi anemia complementation group N term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PALB2 partner and localizer of BRCA2 ISO OMIM NCBI chr 6:22,209,711...22,237,798
Ensembl chr 6:22,209,384...22,237,745
JBrowse link
Fanconi anemia complementation group O term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HSF5 heat shock transcription factor 5 ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group O ClinVar PMID:28492532 NCBI chr 9:33,064,533...33,109,844
Ensembl chr 9:33,066,726...33,109,787
JBrowse link
G MTMR4 myotubularin related protein 4 ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group O ClinVar PMID:28492532 NCBI chr 9:33,110,983...33,136,843
Ensembl chr 9:33,112,143...33,136,684
JBrowse link
G RAD51C RAD51 paralog C ISO OMIM NCBI chr 9:33,289,675...33,347,411
Ensembl chr 9:33,289,742...33,326,405
JBrowse link
G RNF43 ring finger protein 43 ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group O ClinVar PMID:28492532 NCBI chr 9:32,996,668...33,061,781
Ensembl chr 9:32,997,937...33,060,313
JBrowse link
G SEPTIN4 septin 4 ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group O ClinVar PMID:28492532 NCBI chr 9:33,138,167...33,162,212
Ensembl chr 9:33,138,165...33,157,996
JBrowse link
G TEX14 testis expressed 14, intercellular bridge forming factor ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group O ClinVar PMID:28492532 NCBI chr 9:33,174,813...33,289,202
Ensembl chr 9:33,174,814...33,262,870
JBrowse link
Fanconi anemia complementation group P term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLX4 SLX4 structure-specific endonuclease subunit ISO OMIM NCBI chr 6:37,648,297...37,666,584
Ensembl chr 6:37,647,976...37,703,190
JBrowse link
Fanconi anemia complementation group Q term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit ISO OMIM NCBI chr 6:29,193,192...29,226,935
Ensembl chr 6:29,196,421...29,226,887
JBrowse link
Fanconi anemia complementation group R term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RAD51 RAD51 recombinase ISO OMIM NCBI chr30:7,842,540...7,877,128
Ensembl chr30:7,842,540...7,877,606
JBrowse link
Fanconi Anemia Complementation Group S term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRCA1 BRCA1 DNA repair associated ISO OMIM NCBI chr 9:19,958,941...20,025,494
Ensembl chr 9:19,958,391...20,025,494
JBrowse link
Fanconi anemia complementation group T term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G UBE2T ubiquitin conjugating enzyme E2 T ISO OMIM NCBI chr 7:719,128...726,128
Ensembl chr 7:719,116...725,898
JBrowse link
Fanconi anemia complementation group U term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G XRCC2 X-ray repair cross complementing 2 ISO OMIM NCBI chr16:16,402,821...16,429,095
Ensembl chr16:16,402,933...16,429,037
JBrowse link
Fanconi anemia complementation group V term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAD2L2 mitotic arrest deficient 2 like 2 ISO OMIM NCBI chr 2:84,539,724...84,549,402
Ensembl chr 2:84,545,226...84,549,356
JBrowse link
Fanconi Anemia Complementation Group W term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RFWD3 ring finger and WD repeat domain 3 ISO OMIM NCBI chr 5:75,960,909...76,001,088
Ensembl chr 5:75,960,955...76,000,467
JBrowse link
HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LARS2 leucyl-tRNA synthetase 2, mitochondrial ISO OMIM NCBI chr20:42,891,823...43,080,987
Ensembl chr20:42,892,801...43,081,197
JBrowse link
Hypochromic Microcytic Anemia with Iron Overload 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC11A2 solute carrier family 11 member 2 ISO OMIM NCBI chr27:3,788,785...3,823,852
Ensembl chr27:3,787,855...3,822,672
JBrowse link
myopathy, lactic acidosis, and sideroblastic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNM1L dynamin 1 like ISO ClinVar Annotator: match by term: Mitochondrial myopathy and sideroblastic anemia ClinVar PMID:25741868 PMID:28492532 NCBI chr27:16,161,855...16,211,983
Ensembl chr27:16,163,357...16,211,957
JBrowse link
G PUS1 pseudouridine synthase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mitochondrial myopathy and sideroblastic anemia
CTD
ClinVar
PMID:28492532 NCBI chr26:955,413...965,561
Ensembl chr26:955,462...966,155
JBrowse link
G YARS2 tyrosyl-tRNA synthetase 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mitochondrial myopathy and sideroblastic anemia
CTD
ClinVar
PMID:25741868 PMID:28492532 NCBI chr27:16,139,462...16,162,701
Ensembl chr27:16,139,499...16,161,147
JBrowse link
myopathy, lactic acidosis, and sideroblastic anemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PUS1 pseudouridine synthase 1 ISO OMIM NCBI chr26:955,413...965,561
Ensembl chr26:955,462...966,155
JBrowse link
myopathy, lactic acidosis, and sideroblastic anemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNM1L dynamin 1 like ISO ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 2 ClinVar PMID:28492532 NCBI chr27:16,161,855...16,211,983
Ensembl chr27:16,163,357...16,211,957
JBrowse link
G YARS2 tyrosyl-tRNA synthetase 2 ISO OMIM NCBI chr27:16,139,462...16,162,701
Ensembl chr27:16,139,499...16,161,147
JBrowse link
myopathy, lactic acidosis, and sideroblastic anemia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 3 ClinVar PMID:25037980 PMID:27812026 PMID:29350304 NCBI chr MT:7,964...8,644
Ensembl chr MT:7,964...8,644
JBrowse link
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TERT telomerase reverse transcriptase ISO OMIM NCBI chr34:11,288,622...11,307,790
Ensembl chr34:11,288,622...11,307,951
JBrowse link
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RTEL1 regulator of telomere elongation helicase 1 ISO OMIM NCBI chr24:47,219,977...47,248,791 JBrowse link
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PARN poly(A)-specific ribonuclease ISO OMIM NCBI chr 6:28,629,137...28,783,671
Ensembl chr 6:28,629,174...28,783,901
JBrowse link
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ZCCHC8 zinc finger CCHC-type containing 8 ISO OMIM NCBI chr26:6,895,873...6,927,262
Ensembl chr26:6,895,904...6,926,484
JBrowse link
pure red-cell aplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HAMP hepcidin antimicrobial peptide ISO mRNA:increased expression:liver RGD PMID:25580431 RGD:11041717 NCBI chr 1:117,305,531...117,306,587
Ensembl chr 1:117,305,411...117,306,619
JBrowse link
G HLA-DRB1 MHC class II DLA DRB1 beta chain susceptibility ISO DNA:polymorphisms, haplotype:cds:HLA-DRB1*09 (human) RGD PMID:18689790 RGD:11041748 NCBI chr12:2,151,409...2,164,564 JBrowse link
Shwachman-Diamond syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNAJC21 DnaJ heat shock protein family (Hsp40) member C21 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:73,343,618...73,372,003
Ensembl chr 4:73,348,638...73,372,009
JBrowse link
G SBDS SBDS ribosome maturation factor ISO OMIM NCBI chr 6:1,256,087...1,263,482
Ensembl chr 6:1,256,546...1,263,467
JBrowse link
G SRP19 signal recognition particle 19 ISO ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1 ClinVar NCBI chr 3:239,651...245,078
Ensembl chr 3:239,652...245,078
JBrowse link
G SRP54 signal recognition particle 54 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Shwachman syndrome
CTD
ClinVar
PMID:28972538 PMID:29914977 NCBI chr 8:13,800,275...13,837,799
Ensembl chr 8:13,677,760...13,837,722
JBrowse link
G SRPRA SRP receptor subunit alpha ISO ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1 ClinVar NCBI chr 5:8,247,608...8,253,411
Ensembl chr 5:8,224,416...8,254,792
JBrowse link
sideroblastic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB7 ATP binding cassette subfamily B member 7 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:16892088 PMID:18398482 PMID:18637800 RGD:11038732 NCBI chr  X:58,305,804...58,470,827
Ensembl chr  X:58,306,776...58,471,417
JBrowse link
G ALAD aminolevulinate dehydratase ISO protein:decreased activity:kidney, liver, spleen RGD PMID:5891055 RGD:12904678 NCBI chr11:67,736,643...67,752,399
Ensembl chr11:67,741,390...67,752,321
JBrowse link
G ALAS2 5'-aminolevulinate synthase 2 susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:transversion:cds:p.F165L (human)
CTD
RGD
PMID:7949148 PMID:16716198 PMID:16892088 RGD:1599037 NCBI chr  X:46,703,477...46,731,767
Ensembl chr  X:46,703,477...46,723,529
JBrowse link
G CALR calreticulin ISO DNA:frameshift mutations:cds:p.K385fs*47, p.L367fs*46 (human) RGD PMID:24325359 RGD:11352763 NCBI chr20:49,251,390...49,255,291
Ensembl chr20:49,251,777...49,255,245
JBrowse link
G GDF15 growth differentiation factor 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19036111 NCBI chr20:44,633,131...44,636,842
Ensembl chr20:44,634,588...44,636,821
JBrowse link
G GLRX5 glutaredoxin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18637800 NCBI chr 8:64,383,203...64,392,886
Ensembl chr 8:64,383,227...64,383,841
JBrowse link
G HSPA9 heat shock protein family A (Hsp70) member 9 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:26,122,917...26,142,458
Ensembl chr11:26,121,499...26,142,434
JBrowse link
G MT-CO1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by term: Sideroblastic anemia, acquired idiopathic ClinVar PMID:9389715 NCBI chr MT:5,349...6,893
Ensembl chr MT:5,349...6,893
JBrowse link
G SLC25A38 solute carrier family 25 member 38 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19412178 NCBI chr23:9,031,984...9,045,781
Ensembl chr23:9,032,000...9,045,788
JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16910769 PMID:21326867 NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706
JBrowse link
G TFRC transferrin receptor ISO mRNA,protein:increased expression:erythroblast: RGD PMID:21326867 RGD:11062136 NCBI chr33:29,206,024...29,237,221
Ensembl chr33:29,208,609...29,238,242
JBrowse link
sideroblastic anemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALAS2 5'-aminolevulinate synthase 2 onset ISO DNA:mutation:exon: 1236 G> A, p.C395Y (human)
DNA:mutations:exons:p.K299Q,A172T(human)
OMIM
RGD
PMID:7560104 PMID:11110715 RGD:11035241 RGD:11035243 NCBI chr  X:46,703,477...46,731,767
Ensembl chr  X:46,703,477...46,723,529
JBrowse link
G APEX2 apurinic/apyrimidinic endodeoxyribonuclease 2 ISO ClinVar Annotator: match by term: Anemia, sideroblastic, 1 ClinVar NCBI chr  X:46,692,667...46,703,309
Ensembl chr  X:46,693,191...46,702,195
JBrowse link
G SLC25A38 solute carrier family 25 member 38 ISO ClinVar Annotator: match by term: ANEMIA, SIDEROBLASTIC, 1 ClinVar PMID:28492532 NCBI chr23:9,031,984...9,045,781
Ensembl chr23:9,032,000...9,045,788
JBrowse link
Sideroblastic Anemia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HSCB HscB mitochondrial iron-sulfur cluster cochaperone ISO OMIM NCBI chr26:22,103,803...22,120,200
Ensembl chr26:22,103,845...22,120,198
JBrowse link
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRNT1 tRNA nucleotidyl transferase 1 ISO OMIM NCBI chr20:14,275,853...14,296,908
Ensembl chr20:14,271,966...14,296,666
JBrowse link
X-linked sideroblastic anemia with ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB7 ATP binding cassette subfamily B member 7 susceptibility ISO DNA:missense mutation: :p.I400M (human) OMIM
RGD
PMID:10196363 RGD:1598600 NCBI chr  X:58,305,804...58,470,827
Ensembl chr  X:58,306,776...58,471,417
JBrowse link
G ALAS2 5'-aminolevulinate synthase 2 ISO ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia
ClinVar Annotator: match by term: Anemia seX-linked hypochromic sideroblastic
ClinVar NCBI chr  X:46,703,477...46,731,767
Ensembl chr  X:46,703,477...46,723,529
JBrowse link
G SLC25A38 solute carrier family 25 member 38 ISO ClinVar Annotator: match by term: Anemia seX-linked hypochromic sideroblastic ClinVar NCBI chr23:9,031,984...9,045,781
Ensembl chr23:9,032,000...9,045,788
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13842
    disease of anatomical entity 13501
      hematopoietic system disease 1745
        bone marrow disease 557
          Bone Marrow Failure Disorders 163
            Congenital Bone Marrow Failure Syndromes + 10
            Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related + 4
            aplastic anemia + 152
Path 2
Term Annotations click to browse term
  disease 13842
    disease of anatomical entity 13501
      Hemic and Lymphatic Diseases 2121
        hematopoietic system disease 1745
          bone marrow disease 557
            Bone Marrow Failure Disorders 163
              Congenital Bone Marrow Failure Syndromes + 10
              Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related + 4
              aplastic anemia + 152
paths to the root